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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-147935659-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=147935659&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 147935659,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002552.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "NM_181741.4",
"protein_id": "NP_859525.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "ENST00000392857.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181741.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000392857.10",
"protein_id": "ENSP00000376597.5",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "NM_181741.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392857.10"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1237A>G",
"hgvs_p": "p.Met413Val",
"transcript": "ENST00000877934.1",
"protein_id": "ENSP00000547993.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 461,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877934.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "NM_001190879.3",
"protein_id": "NP_001177808.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190879.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "NM_001374270.1",
"protein_id": "NP_001361199.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374270.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "NM_002552.5",
"protein_id": "NP_002543.2",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002552.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "NM_181742.4",
"protein_id": "NP_859526.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 6546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181742.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000264169.6",
"protein_id": "ENSP00000264169.2",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264169.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000535373.5",
"protein_id": "ENSP00000441953.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 6710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535373.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000877929.1",
"protein_id": "ENSP00000547988.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877929.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000877930.1",
"protein_id": "ENSP00000547989.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877930.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000877931.1",
"protein_id": "ENSP00000547990.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877931.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000877936.1",
"protein_id": "ENSP00000547995.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877936.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000877939.1",
"protein_id": "ENSP00000547998.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877939.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000877941.1",
"protein_id": "ENSP00000548000.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877941.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000932801.1",
"protein_id": "ENSP00000602860.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932801.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Met388Val",
"transcript": "ENST00000969862.1",
"protein_id": "ENSP00000639921.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969862.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "ENST00000932802.1",
"protein_id": "ENSP00000602861.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 433,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932802.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Met374Val",
"transcript": "ENST00000932805.1",
"protein_id": "ENSP00000602864.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 422,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932805.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1075A>G",
"hgvs_p": "p.Met359Val",
"transcript": "ENST00000877935.1",
"protein_id": "ENSP00000547994.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 407,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877935.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Met356Val",
"transcript": "ENST00000877933.1",
"protein_id": "ENSP00000547992.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 404,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877933.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.988A>G",
"hgvs_p": "p.Met330Val",
"transcript": "ENST00000877940.1",
"protein_id": "ENSP00000547999.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 378,
"cds_start": 988,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1084,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}